Canonical Allele Identifier: CA2673314846

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871579-CGCGGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871588_14871593del , CM000667.2:g.14871588_14871593del	GRCh38
NC_000005.9:g.14871697_14871702del , CM000667.1:g.14871697_14871702del	GRCh37
NC_000005.8:g.14924697_14924702del	NCBI36
NG_008273.1:g.5194_5199del
NG_008273.2:g.5201_5206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-138_-133del MANE Select	ENSP00000284268.6:n.-138_-133del
ENST00000284268.6:c.-138_-133del	ENSP00000284268.6:n.-138_-133del
ENST00000505140.1:c.-138_-133del	ENSP00000426332.1:n.-138_-133del
NM_054027.4:c.-138_-133del	NP_473368.1:n.-138_-133del
XM_011514067.1:c.-138_-133del	XP_011512369.1:n.-138_-133del
NM_054027.5:c.-138_-133del	NP_473368.1:n.-138_-133del
NM_054027.6:c.-138_-133del MANE Select	NP_473368.1:n.-138_-133del